Rare Disease Library

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

Cardiac diverticulum

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

Cardiac-valvular Ehlers-Danlos syndrome

Cardiac-valvular EDS · cvEDS

Cardiocranial syndrome, Pfeiffer type

Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Cardiogenic shock

Cardiomyopathy-cataract-hip spine disease syndrome

Krasnow-Qazi syndrome

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Caribbean parkinsonism

Atypical parkinsonism in the Caribbean

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Carney complex-trismus-pseudocamptodactyly syndrome

Carney complex variant

Carney triad

Carney-Stratakis syndrome

Carney dyad · Carney-Stratakis dyad

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Carnosinase deficiency

Caroli disease

Caroli syndrome

Carotid web

AFMD · CaW

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

Carpenter-Waziri syndrome

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Castleman disease

Angiofollicular ganglionic hyperplasia · Angiofollicular lymph hyperplasia

Cat-eye syndrome

CES

Cat-scratch disease

Bartonellosis due to Bartonella henselae infection

Cataract-aberrant oral frenula-growth delay syndrome

Wellesley-Carman-French syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

Cataract-congenital heart disease-neural tube defect syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

CAGSSS

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cataract-microcornea syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

Catecholaminergic polymorphic ventricular tachycardia

Polymorphic ventricular tachycardia induced by catecholamines · CPVT

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome